Cilia and Human Diseases, mitochondria and mitochondrial disorders

Cilia and Human Diseases
Cilia are evolutionary conserved organelles that protrude from mammalian cells and exert motility and sensory function. Cilia have crucial roles in cell signalling pathways and in maintaining cellular homeostasis. Thousands of proteins potentially involved in ciliary function have been identified. However, much remains to be determined on the biology and functions of this complex organelle of growing biomedical importance.
Our laboratory aims at addressing the following questions:
Which is the link between ciliary proteins and autophagy and what is the role of autophagy in the pathogenesis of cilia-associated phenotypes
Why mutations in the same ciliary transcript can cause diverse phenotypes ranging from disruption of a single tissue to wide spectrum developmental disorders such as OFD type I syndrome.
Mitochondria and mitochondrial disorders
Mitochondrial dysfunction underlies the pathogenesis of rare and common conditions. Our laboratory focuses on different aspects of mitochondria biology and mitochondrial disorders. In particular, on the basis of our previous work on rare mitochondrial diseases, we apply in vivo and in vitro approaches to examine the following topics:
Study the mechanisms underlying the neuroprotective effect of miRNA181a and miRNA 181b downregulation in mitochondria-mediated neurodegeneration (e.g. Leigh and LHON syndromes)
Dissection of a novel mitochondrial caspase mediated cell death pathway implicated in human diseases
Definition of the pathogenetic mechanisms underlying microphtalmia with linear skin lesions (MLS) syndrome.

The "Total Award" amount indicated for this project represents the share of the funding of the Telethon Foundation for research by the Tigem institute from January 2022 until last budget year, calculated based on the size of the research group.